(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001039.3 in the SCNN1G gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011909.1, covering SCNN1G transcript NM_001039.3.
(upstream sequence)
. g.5019
aagagcccgcggtggcgct c.-121
. . . . . . g.5079
gccaggggatgctagcccgagagcgagcagaggagcagcgcacccgcacgagccttggac c.-61
. . | 02 . . . . g.8553
cctttggaaccgaaag | cacgcccgtcctcagagtcccgtcctcaaagtcccatcctcgcc c.-1
. . . . . . g.8613
ATGGCACCCGGAGAGAAGATCAAAGCCAAAATCAAGAAGAATCTGCCCGTGACGGGCCCT c.60
M A P G E K I K A K I K K N L P V T G P p.20
. . . . . . g.8673
CAGGCGCCGACCATTAAAGAGCTGATGCGGTGGTACTGCCTCAACACCAACACCCATGGC c.120
Q A P T I K E L M R W Y C L N T N T H G p.40
. . . . . . g.8733
TGTCGCCGCATCGTGGTGTCCCGCGGCCGTCTGCGCCGCCTCCTCTGGATCGGGTTCACA c.180
C R R I V V S R G R L R R L L W I G F T p.60
. . . . . . g.8793
CTGACTGCCGTGGCCCTCATCCTCTGGCAGTGCGCCCTCCTCGTCTTCTCCTTCTATACT c.240
L T A V A L I L W Q C A L L V F S F Y T p.80
. . . . . . g.8853
GTCTCAGTTTCCATCAAAGTCCACTTCCGGAAGCTGGATTTTCCTGCAGTCACCATCTGC c.300
V S V S I K V H F R K L D F P A V T I C p.100
. | 03. . . . . g.11695
AACATCAACCCCTACAA | GTACAGCACCGTTCGCCACCTTCTAGCTGACTTGGAACAGGAG c.360
N I N P Y K | Y S T V R H L L A D L E Q E p.120
. . . . . . g.11755
ACCAGAGAGGCCCTGAAGTCCCTGTATGGCTTTCCAGAGTCCCGGAAGCGCCGAGAGGCG c.420
T R E A L K S L Y G F P E S R K R R E A p.140
. . . . . . g.11815
GAGTCCTGGAACTCCGTCTCAGAGGGAAAGCAGCCTAGATTCTCCCACCGGATTCCGCTG c.480
E S W N S V S E G K Q P R F S H R I P L p.160
. . . . . . g.11875
CTGATCTTTGATCAGGATGAGAAGGGCAAGGCCAGGGACTTCTTCACAGGGAGGAAGCGG c.540
L I F D Q D E K G K A R D F F T G R K R p.180
. . . . . . g.11935
AAAGTCGGCGGTAGCATCATTCACAAGGCTTCAAATGTCATGCACATCGAGTCCAAGCAA c.600
K V G G S I I H K A S N V M H I E S K Q p.200
. | 04 . . . . g.14675
GTGGTGGGATTCCAACTG | TGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCAGC c.660
V V G F Q L | C S N D T S D C A T Y T F S p.220
. . . . . . g.14735
TCGGGAATCAATGCCATTCAGGAGTGGTATAAGCTACACTACATGAACATCATGGCACAG c.720
S G I N A I Q E W Y K L H Y M N I M A Q p.240
. . . . . . g.14795
GTGCCTCTGGAGAAGAAAATCAACATGAGCTATTCTGCTGAGGAGCTGCTGGTGACCTGC c.780
V P L E K K I N M S Y S A E E L L V T C p.260
. . | 05 . . . g.16483
TTCTTTGATGGAGTGTCCTGTGATGCCAG | GAATTTCACGCTTTTCCACCACCCGATGCAT c.840
F F D G V S C D A R | N F T L F H H P M H p.280
. . . . . . g.16543
GGGAATTGCTATACTTTCAACAACAGAGAAAATGAGACCATTCTCAGCACCTCCATGGGG c.900
G N C Y T F N N R E N E T I L S T S M G p.300
. | 06 . . . . . g.19592
GGCAGCGAATATG | GGCTGCAAGTCATTTTGTACATAAACGAAGAGGAATACAACCCATTC c.960
G S E Y G | L Q V I L Y I N E E E Y N P F p.320
. . . . . . g.19652
CTCGTGTCCTCCACTGGAGCTAAGGTGATCATCCATCGGCAGGATGAGTATCCCTTCGTC c.1020
L V S S T G A K V I I H R Q D E Y P F V p.340
. . . . . | 07. g.32034
GAAGATGTGGGAACAGAGATTGAGACAGCAATGGTCACCTCTATAGGAATGCACCTG | ACA c.1080
E D V G T E I E T A M V T S I G M H L | T p.360
. . . . . . g.32094
GAGTCCTTCAAGCTGAGTGAGCCCTACAGTCAGTGCACGGAGGACGGGAGTGACGTGCCA c.1140
E S F K L S E P Y S Q C T E D G S D V P p.380
. . . | 08 . . . g.34339
ATCAGGAACATCTACAACGCTGCCTACTCGCTCCAG | ATCTGCCTTCATTCATGCTTCCAG c.1200
I R N I Y N A A Y S L Q | I C L H S C F Q p.400
. . . . . . g.34399
ACAAAGATGGTGGAGAAATGTGGGTGTGCCCAGTACAGCCAGCCTCTACCTCCTGCAGCC c.1260
T K M V E K C G C A Q Y S Q P L P P A A p.420
. . . | 09 . . . g.34985
AACTACTGCAACTACCAGCAGCACCCCAACTGGA | TGTATTGTTACTACCAACTGCATCGA c.1320
N Y C N Y Q Q H P N W M | Y C Y Y Q L H R p.440
. . . . . | 10 . g.35125
GCCTTTGTCCAGGAAGAGCTGGGCTGCCAGTCTGTGTGCAAGGAAGCCTGCAG | CTTTAAA c.1380
A F V Q E E L G C Q S V C K E A C S | F K p.460
. . . . . | 11 . g.35392
GAGTGGACACTAACCACAAGCCTGGCACAATGGCCATCTGTGGTTTCGGAG | AAGTGGTTG c.1440
E W T L T T S L A Q W P S V V S E | K W L p.480
. . . . . | 12 . g.37000
CTGCCTGTTCTCACTTGGGACCAAGGCCGGCAAGTAAACAAAAAGCTCAACAA | GACAGAC c.1500
L P V L T W D Q G R Q V N K K L N K | T D p.500
. . . . . . g.37060
TTGGCCAAACTCTTGATATTCTACAAAGACCTGAACCAGAGATCCATCATGGAGAGCCCA c.1560
L A K L L I F Y K D L N Q R S I M E S P p.520
| 13 . . . . . g.37421
GCCAACAGT | ATTGAGATGCTTCTGTCCAACTTCGGTGGCCAGCTGGGCCTGTGGATGAGC c.1620
A N S | I E M L L S N F G G Q L G L W M S p.540
. . . . . . g.37481
TGCTCTGTTGTCTGCGTCATCGAGATCATCGAGGTCTTCTTCATTGACTTCTTCTCTATC c.1680
C S V V C V I E I I E V F F I D F F S I p.560
. . . . . . g.37541
ATTGCCCGCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCTGGAAACAGGCTCCCCCA c.1740
I A R R Q W Q K A K E W W A W K Q A P P p.580
. . . . . . g.37601
TGTCCAGAAGCTCCCCGTAGCCCACAGGGCCAGGACAATCCAGCCCTGGATATAGACGAT c.1800
C P E A P R S P Q G Q D N P A L D I D D p.600
. . . . . . g.37661
GACCTACCCACTTTCAACTCTGCTTTGCACCTGCCTCCAGCCCTAGGAACCCAAGTGCCC c.1860
D L P T F N S A L H L P P A L G T Q V P p.620
. . . . . . g.37721
GGCACACCGCCCCCCAAATACAATACCTTGCGCTTGGAGAGGGCCTTTTCCAACCAGCTC c.1920
G T P P P K Y N T L R L E R A F S N Q L p.640
. . . g.37751
ACAGATACCCAGATGCTGGATGAGCTCTGA c.1950
T D T Q M L D E L X p.649
. . . . . . g.37811
ggcagggttgagaagacagatctagtcaggaccaccagccatggtctaaggacatggatc c.*60
. . . . . . g.37871
gggtgcccccagacgtgtgcacaggggaccctctgccccactctgggcttttcagatact c.*120
. . . . . . g.37931
ctgaccaaaaagcctgctttaaaccgcaagatggggcctgggcatgcgcaggaggagcca c.*180
. . . . . . g.37991
tcgggtactacgcagcaacactcacaactgtccaggctgagataaatcccgggacctgaa c.*240
. . . . . . g.38051
ctattagcacgtcactagagactgggagccgaggcagtggtgctggcccaagtgaaggcc c.*300
. . . . . . g.38111
agagtgaggactgatgcagctctttacgggtcttgagagggaaggactcttccaaagccc c.*360
. . . . . . g.38171
caaagccgagggtttcacccacactgccagcctgggttggggcccaaggatgtgaccttg c.*420
. . . . . . g.38231
agtgtcaaggctggacagctactgccagatgccaaagataggagaaagtgccagccctga c.*480
. . . . . . g.38291
agctggagccgtttgtgaataaactgttcttcatcattgacactggagaaaggtgtcctc c.*540
. . . . . . g.38351
catgccctcaggcagcagagaactggcccagagcccttggagtgttggtggagatcagag c.*600
. . . . . . g.38411
tgccgtggtggaggtctgggactatgtcagagtgtcctcactttggggcatgggtgggtc c.*660
. . . . . . g.38471
caggagatggatttagttattcaattttgtggatgaataaattgaggcacagaaagatta c.*720
. . . . . . g.38531
agttaccggcccaaggtgacacagtgaggaggtggcagagctaggatttgaacccagaca c.*780
. . . . . . g.38591
atctgacttcatgattttgcatccaattcgtgtctgtgccttttaaagggtgaggtctgt c.*840
. . . . . . g.38651
gtcactttgggtggggagggggagcatggtgggccatgctctgggcagctgttccaagac c.*900
. . . . . . g.38711
agagctgacccttccattaccaatggcctgtccctcaccaacaagccaactgccacagat c.*960
. . . . . . g.38771
gacccacttcataccacattcacatctttccacctgaaatggctaacaggtattaaatcc c.*1020
. . . . . . g.38831
ttggttggtgtttaaagccaacccaagaacagggtgttaggtactgttttaagcacctag c.*1080
. . . . . . g.38891
ataggttagcataggggactgcaaatggtgttccgcaaagcaaatcctgtttttgaccat c.*1140
. . . . . . g.38951
gaactaagaattttattttattttattttttattttttgtagaaataggatctcactatg c.*1200
. . . . . . g.39011
ttgcccaggctgttcttgaactcctggcctcaaatgatcttcccacttcagcctcccaaa c.*1260
. . . . . . g.39071
gtgcagggattacaggcacaagccaccgtgcccagccaagaatttttatttttgctttta c.*1320
. . . . . . g.39131
aatagcaaaagaagaagattctgtgactcatgaaaatgatatgagattcgaattccagtg c.*1380
. . . g.39161
tctataaataaagttttattggtacacagc c.*1410
(downstream sequence)
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